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Maternal Uniparental Disomy for Chromosome 14

Published online by Cambridge University Press:  01 August 2014

D.A. Coviello ,
E. Panucci ,
M.M. Mantero ,
C. Perfumo ,
M. Guelfi ,
C. Borrone  and
F. Dagna Bricarelli
D.A. Coviello*
Affiliation:
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy
E. Panucci
Affiliation:
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy
M.M. Mantero
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
C. Perfumo
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
M. Guelfi
Affiliation:
Istituto di Clinica Ortopedica, Università di Genova, Italy
C. Borrone
Affiliation:
Divisione di Pediatria II, Istituto G. Gaslini, Genova, Italia
F. Dagna Bricarelli
Affiliation:
Centro di Genetica Umana, E.O. Ospedali Galliera, Genova, Italy
*
Istituto di Biologia e Genetica (IBIG), Università di Genova, Italy

Abstract

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A girl carrying a de novo balanced 13-14 robertsonian translocation showed a clinical phenotype with severe hypotonia, hyperextensible joints, frontal bossing, asymmetric face, no mental retardation, severe scoliosis and motor delay. In situ hybridization analysis on chromosome spreads revealed the presence of the two centromeres in the rearranged chromosomes. Molecular analysis on genomic DNA showed the presence in the proposita of two chromosomes 14 of maternal origin and no chromosome 14 from the father indicating a maternal monocentric uniparental disomy for chromosome 14 (mUPD14). Our patient shows several similarities with other reported cases of mUPD14, suggesting imprinting of a region(s) of chromosome 14 and defining a possible mUPD14 Syndrome.

Keywords

Uniparental disomyChromosome 14Robertsonian translocationImprinting
Type
Research Article
Information
Acta geneticae medicae et gemellologiae: twin research , Volume 45 , Issue 1-2 , April 1996 , pp. 169 - 172
Copyright
Copyright © The International Society for Twin Studies 1996

References

REFERENCES

1. Engel, E: A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980; 6: 137–143.Google Scholar
2. Hall, JG: Genomic imprinting: review and relevance to human disease. Am J Hum Genet 1990; 46: 857–873.Google Scholar
3. Temple, IK, Cockwell, A; Hassold, T, Pettay, D, Iacobs, P: Maternal uniparental disomy for chromosome 14. J Med Genet 1991, 28: 511–514.Google Scholar
4. Pentao, L; Lewis, RA, Ledbetter, DU, Patel, PI, Lupski, JR: Maternal uniparental disomy for chromosome 14: association with autosomal recessive rod monochromacy. Am J Hum Genet 1992; 50: 690–699.Google Scholar
5. Antonarakis, SE, Blouin, JL, Maher, J, Avramopopulus, D, Thomas, G, Talbot, CC Jr: Maternal uniparental disomy for human chromosome 14, due to loss of a chromosome 14 from somatic cells with t(13;14) trisomy 14. Am J Hum Genet 1993; 52: 1145–1152.Google Scholar
6. Healey, SD, Powell, F, Battersby, M, Chenevix-Trench, G, McGill, J: Distinct phenotype in maternal uniparental disomy of chromosome 14. Am J Med Genet 1994; 51: 147–149.Google Scholar
7. Pinkel, D, Straume, T, Gray, JW: Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridization. Proc Natl Acad SCI 1988; 83: 2934–2938.CrossRefGoogle Scholar
8. Coviello, DA, Bertolini, S, Masturzo, P, Chisellini, M, Tiozzo, R, Zambelli, F, Stefanutti, C, Torcia, F, Pachì, A, Calandara, S: Chorionic DNA analysis for the prenatal diagnosis of familial hypercholesterolemia. Hum Genet 1993; 92: 424–426.CrossRefGoogle Scholar
9 Wang, J-CC, Passage, MB, Yen, PH, Shapiro, LJ, Mohandas, TK: Uniparental heterodisomy for chromosome 14 in a phenotypically abnormal familial balanced 13/14 robertsonian translocation carrier. Am J. Hum Genet 1991; 48:1069–1074.Google Scholar